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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
calcium voltage-gated channel subunit alpha1 A
Summary
- Gene Symbol
-
- CACNA1A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium channel
- Cell membrane
- Coiled coil
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Metal-binding
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Spinocerebellar ataxia
- Transmembrane helix
- Triplet repeat expansion
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A087WW63 |
|
| B5TYJ1 |
|
| Q9NS89 |
|
| O00555 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cellular response to amyloid-beta | ||
| response to amyloid-beta | ||
| calcium ion transmembrane transport | ||
| cell death |
|
|
| calcium ion import across plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane | ||
| voltage-gated calcium channel complex | ||
| neuronal cell body | ||
| plasma membrane | ||
| cell projection |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| metal ion binding | ||
| voltage-gated calcium channel activity | ||
| amyloid-beta binding | ||
| calcium ion binding |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- voltage-dependent calcium channel
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Ion transport domain |
| Voltage-dependent channel domain superfamily |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050214 | Lambert-Eaton myasthenic syndrome | |
| DOID:0050704 | childhood electroclinical syndrome | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0050835 | generalized dystonia | |
| DOID:0050951 | hereditary ataxia | |
| DOID:0050956 | spinocerebellar ataxia type 6 | |
| DOID:0050990 | episodic ataxia type 2 | |
| DOID:0060178 | familial hemiplegic migraine | |
| DOID:0070309 | absence epilepsy | |
| DOID:0080454 | developmental and epileptic encephalopathy 42 |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 12286 | MGI:109482 | MOUSE58243 | ||
| 25398 | RGD:2244 | RATNO15175 | ||
| 32158 | FB:FBgn0263111 | |||
| 282648 | BOVIN32470 | |||
| 373828 | Xenbase:XB-GENE-1013834 | |||
| 455766 | 9598_0:004bb4 | PANTR17359 | ||
| 562059 | ZFIN:ZDB-GENE-040724-26 | |||
| 569528 | ZFIN:ZDB-GENE-090514-3 | |||
| 718291 | MACMU20901 | |||
| 853131 | SGD:S000003449 |
